RARE Clinical Trials Hub

STEER is a Novartis research study evaluating the clinical efficacy, safety and tolerability of OAV101 IT in patients with SMA Type 2 between 2 to <18 years of age who are able to sit but never walked and have never received treatment for SMA. This research study is a randomized, double-blind, sham-controlled, global Phase 3 clinical trial. In STEER, patients will be randomly assigned to one of two possible treatment groups, including: 1) Treatment with OAV101 IT 2) Sham procedure, a needle prick in the lower back without the administration of OAV101 IT Eligible patients who have the sham procedure in the first period of the study will receive OAV101 IT in the second period of the study.

This is a Phase 2, randomized, open-label, parallel-group, multi-center study for patients with documented carcinoid syndrome requiring medical therapy including at least 1 instance of an elevated 5-HIAA level. The study includes a Screening Period of up to 12 weeks. After completion of Screening, subjects will be randomly assigned to 40 mg QD vs. 80 mg QD open-label dose groups for 8 weeks, referred to as the Randomized Treatment Phase. Following the completion of the Randomized Treatment Phase, subjects may be eligible to enter the Open-Label Extension (OLE) Phase of the study in which they will receive paltusotine for 50 weeks. At the end of the treatment period, there will be a follow-up visit 4 weeks after the last dose of paltusotine. The total duration of paltusotine treatment is up to 58 weeks or up to 15 months.

BioMarin is conducting a global clinical trial for adolescents with PKU aged 12 to 17years. With the study results, BioMarin aims to determine if a medication called pegvaliase (also known as BMN 165) is tolerable and effective in adolescents with PKU. If eligible and enrolled in the trial, the adolescent will remain on a phenylalanine (Phe)-restricted diet and will be randomly assigned to one of two treatment groups. Group 1: Adolescents receive pegvaliase treatment. Group 2: Adolescents continue on Phe-restricted diet only and then start pegvaliase after the first 72 weeks in the study. Please note: Adolescents will be twice as likely to be in Group 1, compared to Group 2. Who may qualify: -Individuals aged 12–17 years old -Diagnosed with PKU and unable to maintain recommended blood Phe levels on their current prescribed treatment (blood Phe levels more than 600 micromol/L or 10mg/dL) -Participants must have an adult caretaker willing to observe the participant for 1 hour

The ALPHA-STAR Trial is an Astria Therapeutics, Inc., global trial evaluating STAR-0215, an investigational drug, as a potential long-acting treatment for prevention of hereditary angioedema (HAE) attacks in participants with HAE types I and II. The trial will evaluate the safety and tolerability of STAR-0215, assess its effect on HAE attacks and quality of life, and study how it works in the body. Participants will be screened and enter an 8-week Run-In period to check if they had any HAE attacks. Following the Run-In period, participants will receive either one dose of STAR-0215 (Cohort 1) or two doses of STAR-0215 (Cohort 2) given three months apart via subcutaneous injection. Each group will be followed for 6 months after the final dose of STAR-0215 to assess for side effects, amount and activity of STAR-0215 in the bloodstream, and effects of STAR-0215 on HAE attacks. The study duration is around 7.5 months for Cohort 1 and around 10 months for Cohort 2.

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This is a Phase 1/2 single-arm, open-label, multicenter study evaluating the safety and efficacy of a single unit dose of EDIT-301 for autologous hematopoietic stem cell transplant (HSCT) in subjects with severe SCD. Planned study subjects will be comprised of male and female adult subjects with severe SCD, from 18 to 50 years of age, inclusive.

This is a multicenter, open-label study to assess the safety and tolerability of VGL101 in subjects with documentation of a gene mutation in the CSF1R gene for the treatment of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and to evaluate the effects of VGL101 on imaging and biomarkers of disease progression in subjects with ALSP. Participants will receive infusions of VGL101 approximately every 4 weeks for 1 year.

The main objective of this trial is to evaluate the safety, tolerability, and pharmacodynamic activity of BBP-812, an investigational AAV9-based gene therapy, in pediatric participants with Canavan disease.

This study is designed to evaluate the safety, tolerability, and efficacy of AAV5 based BBP-631 in adult participants diagnosed with classic congenital adrenal hyperplasia.

This study will assess the effects and safety of PTC857 treatment in participants diagnosed with ALS.

This study will compare the efficacy and safety of unesbulin plus dacarbazine versus placebo plus dacarbazine in participants with unresectable or metastatic, relapsed or refractory LMS who have received at least 1 prior line of systemic therapy.

The INTUNE study is being conducted by Harmony Biosciences to evaluate the safety and efficacy of pitolisant, an investigational medication for treating excessive daytime sleepiness (EDS) in people with idiopathic hypersomnia (IH) age 18 years or older. This study is also evaluating the effect of pitolisant on overall symptoms and severity of IH, sleep inertia, cognition, and general sleep-related impairment. This clinical study consists of a screening period (up to 28 days), an 8-week Open-Label Phase in which all eligible study participants will receive pitolisant, followed by a 4-week Double-Blind Randomized Withdrawal Phase in which study participants and doctors won’t know who is receiving pitolisant or placebo (a tablet that does not contain study drug). For more information, please visit https://www.intuneihstudy.com.

Viridian Therapeutics is sponsoring phase 3 clinical study, THRIVE, exploring an investigational study drug called VRDN-001 as a potential new treatment for people living with thyroid eye disease (TED). In THRIVE, researchers are looking to better understand the safety of the study drug and how it may benefit adults, 18 years or older, diagnosed with active TED. THRIVE is a randomized, double-masked, placebo-controlled, global clinical study. Participants will attend study visits involving medical tests and exams over the course of about 52 weeks. During the first 24 weeks, participants will receive 8 infusions of study drug or placebo, once every 3 weeks. Infusions are given intravenously (IV), meaning through a vein in the arm, by a trained professional. For the last 28 weeks of the study, all participants will be monitored. Participants who do not experience benefit after the first 24 weeks may be eligible to enter a separate open-label extension study to receive the study drug.

A clinical research study for children living with SMA. The RESPOND Study is evaluating the safety and efficacy of nusinersen in infants and children with SMA three years of age and under who have been previously treated with onasemnogene abeparvovec.

If you or your child has been diagnosed with spinal muscular atrophy (SMA), the ASCEND Study may interest you. This clinical research study is investigating how safe and how well an investigational higher dose of nusinersen may work in participants with SMA who were previously treated with risdiplam. Currently screening people ages 15 to 50 years old who have a confirmed diagnosis of SMA to take part in a clinical research study.

SMA is caused by a mutation, or change, in a gene called survival motor neuron 1 (SMN1). This gene produces a protein called survival motor neuron (SMN) that is important for nerve and muscle function. Individuals with SMA do not produce enough of this protein. There is a “back-up” gene called SMN2, that produces a small amount of the SMN protein. Researchers conducting the DEVOTE study are examining nusinersen to determine its safety and effectiveness at different doses in producing SMN protein.

The ATLAS Study is part of a larger clinical research effort to evaluate the safety, dosing, and efficacy of an investigational drug in people who have a confirmed SOD1 gene variant. This study will evaluate whether starting an investigational drug early (before clinical signs or symptoms that definitively indicate onset of ALS) will delay the appearance of signs or symptoms of ALS compared to placebo and/or reduce the loss of function over time as compared with starting the investigational drug once signs or symptoms appear. The investigational drug (BIIB067) is designed to target the SOD1 gene and potentially reduce the level of SOD1 protein in people with ALS who carry a confirmed SOD1 gene variant.

This is a multicenter study with 2 arms, and will include 3 phases: a) screening phase of up to 28 days before randomization during which participants will complete a 14-day washout period from all prior therapies including JAK-inhibitor treatment, and the participant's eligibility will be reviewed; b) treatment phase, from randomization until study treatment (imetelstat or BAT) discontinuation; and c) post treatment follow-up phase, that begins when the participant discontinues treatment, and will continue until death, lost to follow-up, withdrawal of consent, or study end, whichever occurs first. Participants will be randomized (2:1) into 2 Arms (Arm A will receive imetelstat and Arm B will receive BAT). Participants who meet progressive disease criteria and discontinue BAT, may crossover to receive imetelstat treatment after sponsor's approval.

Janssen Research and Development, LLC is conducting vibrance-mg, a global clinical trial for pediatric patients from 2 to less than 18 years of age with generalized Myasthenia Gravis (gMG) whose disease is inadequately controlled using protocol-allowed, stable, standard-of-care therapy. The purpose of this study is to determine if nipocalimab, an investigational drug, is safe and effective for treating pediatric gMG, and to determine how long nipocalimab stays in and acts within the body. Participants will undergo a screening period followed by a 24-week treatment period. To be eligible for the vibrance-mg study, participants must be aged from 2 to less than 18 years of age, have a diagnosis of gMG and struggling with gMG symptoms despite receiving stable standard of care therapy.