The HEALEY ALS Platform Trial is a research trial that tests the safety and effectiveness of multiple treatments in ALS. A regimen is a specific course of treatment, each with a different study drug. We are doing this research to find out if different treatments have an effect on Amyotrophic Lateral Sclerosis (ALS). We also want to find out if these treatments are safe to take without causing too many side effects.

The purpose of this research study is to look at the safety and effectiveness of pritelivir given orally (by mouth for a maximum of 42 days) for people with an impaired immune system who have recurrent lesions caused by the form of HSV that does respond to treatment with acyclovir.

The purpose of this study is to determine the safety and effectiveness of allogeneic hematopoietic cell transplant in persons with an inherited metabolic disorder or osteopetrosis and if it is effective in reducing or slowing the symptoms associated with the genetic error. The study uses a chemotherapy conditioning regimen that prepares the body to accept the donor hematopoietic cells.

The purpose of the study is to evaluate the use of the Syn-One Test for identifying patients with idiopathic rapid eye movement sleep disorder (iRBD) that will progress to synucleinopathies, such as Parkinson’s disease, dementia with Lewy bodies, pure autonomic failure and multiple system atrophy. Your participation will last approximately 2 years.

Primary Immune Regulatory Disorders (PIRD disorders) are a group of diseases that cause the immune system to function abnormally and cause infections, autoimmunity or inflammation that can begin early in life. PIRD is usually caused by changes in genes in DNA. Researchers are trying to learn what types of medical problems patients with PIRD have and how these respond to treatment. Researchers also want to learn which genes cause PIRD and how it can cause the medical problems of PIRD.

CGD disorders are a group of diseases that cause the immune system to function abnormally, leading to infections, autoimmunity and/or inflammation that can begin early in life. CGD is usually caused by changes in certain genes in DNA. Researchers are trying to learn what types of medical problems patients with CGD have and how these respond to treatment, including bone marrow transplantation and gene therapy. Researchers also want to learn which genes cause CGD and how specific gene abnormalities lead to medical problems.

In this study, the researchers are collecting blood samples to learn more about laronidase treatment in children that receive a hematopoietic cell transplantation. The laronidase dose regimens used after a hematopoietic cell transplantation may differ from those administered before. This study will establish the basis for determining if there is a need to adjust laronidase dosing regimens after receiving a hematopoietic cell transplantation.

This is a single center, open label, Phase I clinical trial of bioactive curcumin with high phenolic extra virgin olive oil (HP-EVOO) to treat cutaneous neurofibromas (cNF) in Neurofibromatosis, type 1 (NF1) patients (aged 18 years or older).

The purpose of this research to enhance our understanding of adrenoleukodystrophy ALD and study biospecimens such assaliva, blood, urine and stool to identify potential biomarkers for early identification of dise. We invite people who have or are at risk to have ALD, including females who are known or at risk carriers of the mutation for ALD, to help us learn more.

The purpose of the study is to find out if iptacopan is effective and safe in adult patients with Paroxysmal Nocturnal Hemoglobinuria (PNH) who switch from their current standard of care treatment (eculizumab or ravulizumab) to iptacopan.

The purpose of the trial is to evaluate the effect and safety of imlifidase when given to participants with antiGBM disease (also called Goodpasture disease). We will study if the addition of imlifidase to the standard of care treatment results in a better effect without causing unacceptable side effects compared to standard of care alone.

Skytrofa is approved in the U.S. for sale and use in children with growth hormone deficiency (GHD). This study is being done to find out how safe and useful Skytrofa is for long-term treatment. A child’s care will follow the normal treatment practices at the clinic. There is no new treatment or medicine involved and no additional visits will be performed.

PR001A is designed to deliver a normal GBA1 gene copy into the body to increase the activity of GCase, which is low in Type 2 Gaucher Disease (GD2) patients. The new GBA1 gene will remain a child’s body cells for many years and possibly for the rest of their life. A participant will need one surgery during which the study drug will be given and will stay in the hospital for at least 48 hours following the surgery.

This study is looking at whether giving a new type of experimental medicine, called JSP191, can prepare the body to help the stem cell transplant work better, so the immune system can grow and fight infections. The study doctor and Sponsor also want to see how safe and well tolerated this experimental medicine is. They will study whether it is safe to give to patients and look at how much medication to give and what side effects may occur. During this study, the optimal dose of JSP191 will be determined and additional patients will be enrolled in this study using that dose level.

The purpose of this study is to evaluate the long-term safety and effectiveness of Skytrofa treatment in children growth hormone deficiency. Patient care will follow the normal treatment practices at the clinic. No additional visits will be performed beyond the usual clinical practice.

The purpose of this study is to establish a registry and biobank to study monoclonal gammopathy and amyloidosis. We aim to understand better the changes these diseases cause, the symptoms they present, and the clinical progression to be able to better prevent them and treat them in the future.

This is a long-term registry is designed to collect data on hypophosphatasia (HPP) to better understand the condition and learn more about the disease, how patients feel about living with HPP and effect of HPP on the patients wellbeing and health. The study will look at participant’s medical records and health questionnaires about the health status of patients. This study collects observational data from clinical care and does not involve any treatment for HPP or administration of medication for HPP.

This study is being done to look at how pregnancy affects the health of women with cystic fibrosis (CF) and to look at the health of babies born to women with CF. It is expected that most but not all women will be taking the newest CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) modulator medication called TRIKAFTA®. It is not known how this medication will affect the health of mother and infant.

The purpose of the study is to test new biomarkers of amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) using MRI scans at 3 tesla (3T). Identifying biomarkers of a disease can lead to a better understanding of the disease as well as improved treatments.

This research is being completed to examine the cells, brain imaging, and speech in individuals with REM Sleep Behavior Disorder who are taking serotonergic medications such as Citalopram, Escitalopram, Fluoxetine, Fluvoxamine, Paroxetine and Sertraline. The purpose of examining these is to try and see if we can predict signs of Dementia with Lewy bodies (a progressive form of dementia with an increase in decline of thinking, reasoning, and other functions). This may benefit others by enabling us to diagnose Dementia with Lewy Bodies sooner rather than later.

We are studying a new drug, INCB054707, used to treat people who have hidradenitis suppurativa which is a chronic skin condition characterized by lumps or boils in places such as the armpits or groin. The skin lesions develop because of inflammation of the follicle. We are studying two doses of the drug and we will compare the effectiveness and side effects that occur. We will also have a group that receives an inactive medication (placebo). After the first 12 weeks of taking the drug or placebo, all participants will receive the active drug. The study will last for about 62 weeks.

Levosimendan has not been approved by the FDA to treat people who have PH-HFpEF or approved to be taken by mouth (orally). In this study, we will measure the amount of levosimendan in blood at various times and evaluate the change in participants 6-Minute Walk Distance.

This is a study of highly effective CFTR modulators and their impact in children with CF on endocrine growth factors, the gut microbiome, respiratory microbiome, liver and pancreatic function, lung function, sweat chloride, and inflammatory markers.

The purpose of this study is to investigate how effective and safe ZYN002, a transdermal gel, is in participants with FXS. The drug product ZYN002 is a pharmaceutically manufactured CBD. It is being developed as a clear gel that can be applied to the skin (called transdermal delivery), to provide consistent, controlled levels of CBD in the blood when it is given twice a day. Participants will be assigned by chance to get one of the following study treatments: Active study drug – ZYN002 or placebo. Assigning study drug by chance is called “randomization,” and it is an important part of testing an experimental study drug. Participants will be randomly assigned to study treatment according to a computer program and will have 1 in 2 chance of receiving the active study drug.

The purpose of this research study is to determine the best dose of FP-045 for Fanconi anemia pediatric and adolescent participants. The study will look at whether the participants have any side effects and if there are any possible changes in something called “biomarkers,” which are blood proteins that will be checked to see if they change when taking FP-045 and that may indicate if FP-045 can delay or prevent disease symptoms. Every participant will receive FP-045.

Currently, there are no approved treatment options for pediatric subjects with proteinuric kidney conditions. The study will look at the safety, efficacy, and pharmacokinetic (PK) trial in children ≥1 to <18 years treated for up to 108 weeks with the drug sparsentan.

We are comparing the results of stool sample testing to colonoscopy for people who have Cystic Fibrosis (CF). We want to find out how effective stool sample testing is in detecting adenomas, including colorectal cancer.

This is a global, multicenter, prospective, observational, longitudinal registry conducted to characterize the natural history and real-world clinical management of patients diagnosed with AHP. This protocol will not recommend the use of any specific treatments, visits, or procedures. No medication is provided as part of registry participation.

The purpose of this open-label Expanded Access Protocol (EAP) is to provide access to MBP134, for treatment of Sudan Virus Disease (SVD). Patients will receive a single IV infusion of 50 mg/kg MBP134. Patients will be monitored and assessed daily through discharge for safety and the incidence of serious adverse events (SAEs), and of all adverse events (AEs) during infusions.

The primary study objective is to determine whether “Take on Transplant” (ToT), a CF-specific Lung Transplant (LTx) educational website, improves patient-reported preparedness for LTx discussions, as measured by the Preparation for Decision Making (PrepDM) Scale at 3 months after randomization, compared to an attention control transplant website (unos.org, UNOS).