Clinical Trials Research

• Clinical Trials

Provides evaluation, diagnosis, and treatment of inherited leukodystrophies (including adrenomyeloneuropathy) for:

• prenatal and pregnancy counseling,
• newborns,
• children,
• adolescents, and
• adults

If families are interested, they can enroll in the Western Leukodystrophy Project, one of the largest longitudinal studies of children with leukodystrophies.

The Leukodystrophy Clinic is also a Leukodystrophy Care Network Certified Center, meeting or exceeding the Criteria for LCN Center Certification.

Josh Bonkowsky, MD, PhD

See website or contact for additional provider names and specialties. All providers may not provide all services.

Provides personalized genetic therapies and therapy development, including rapid genetic testing and research on whole genome sequencing.

Initial efforts are focused on providing answers to critically-ill infants in the newborn intensive care unit, and children with severe seizures and heart conditions.

Josh Bonkowsky, MD, PhD- Director

Works to cure cystic fibrosis and provide all people with CF the opportunity to lead long, fulfilling lives. Conducts research on cystic fibrosis.

The CF Foundation funds research and drug development and provides CF-related resources for families and medical providers.

[https://www.cff.org/Assistance-Services/About-Compass/What-Is-Compass/ Compass] is a personalized one-on-one service to help with the insurance, financial, legal, and other issues faced by people living with CF, their families, and their care teams.

The [https://www.cff.org/ccd/ CF Care Center] finder is a web-based location finder for cystic fibrosis accredited care centers nationwide. The Cystic Fibrosis Foundation provides funding for and accredits more than 110 cystic fibrosis care centers and 55 affiliate programs nationwide, including 96 programs for treating adults with CF.

Provides resources and support for individuals and families living with Angelman Syndrome. Offers a Family Resource Team to help find needed resources; educational programs and Angelman Syndrome Resources. 

Angelman Collaborative Research Partnership- notes two studies, one related to identifying biomarkers that could be used to assess the effects of drugs on AS and the other evaluating measures and technologies related to problems areas such as sleep, communication, and brain activity.

Angelman Syndrome Foundation Contact Registry- asks for contact and demographic data for individuals with Angelman syndrome and their families so they can: notify potential participants about Angelman research trials and alert families about recent events and research findings.

Provides assistance programs to help patients obtain life-saving or life-sustaining medication they could not otherwise afford. Programs provide medication, financial assistance with insurance premiums and co-pays, diagnostic testing assistance, and travel assistance for clinical trials.

Provides support and resources to improve the lives of people with tuberous sclerosis complex (TCS). Website identifies TSC Clinics, a TSC Clinic Screening Tool, and a locator for local resources. Conducts research on cerebral palsy.

Undiagnosed Diseases Network (UDN) is a research study that seeks to provide answers for patients and families affected by mysterious conditions. Clinical sites located throughout the U.S.

Provides a database to find a pediatric ophthalmologist (a medical and surgical doctor who specializes in eye problems of children).

• Clinical Trials
• Disease/Disability Information
• Specialized Information and Referral

Works with research partners from all over the world to engage families and adults with autism in research studies. All of the studies are evaluated for scientific merit, and a SPARK scientific committee approves them. SPARK matches participants with research studies based on characteristics such as age, diagnosis, medical history, location and more. Some of these studies are online, and some are in person.

SPARK does not share any information with researchers until participants give their permission. Participants in SPARK are always in control.

Simons Foundation Powering Autism Research for Knowledge (SPARK)

NIDDK research creates knowledge about and treatments for diseases that are among the most chronic, costly, and consequential for patients, their families, and the Nation. Offers clinical trials, financial assistance for researchers, health information, and publications.

Improving lung health and preventing lung disease through Education, Advocacy and Research. With the generous support of the public, we are "Fighting for Air." Provides asthma research.

Funds and directs comprehensive research that drives breakthroughs in treatment and care, and provides families the support they need. Local and national programs.

Services Include:

• An equipment pool loans medical equipment free of charge
• Annual conference
• Web-based location finder for support in your area

Provides a questionnaire and interview study to learn more about adolescent weight loss and maintenance. Adolescents will complete questionnaires and a brief interview regarding their weight loss experience. Parent participation is also encouraged, but not required. Adolescents and parents will be compensated for their time.

Conducts various alcoholism research studies at the NIH campus in Bethesda, Maryland. While participating in medical research, you will receive standard treatment for alcoholism, which includes motivational and cognitive behavior therapies; individual, group and family counseling; and an option of attending self-help groups such as AA and more.

Provides listing of clinical trials including Angelman syndrome; anxiety in children; argininosuccinic aciduria; arginase; auditory brinstem implants in children and adolescents, biotinidase deficiency in children and adolescents, brain injuries in children; cerebral palsy; continuous positive airway pressure (CPAP); celiac disease in children; childhood absence epilepsy; childhood absence epilepsy initial treatment; childhood hearing loss; childhood adolescent miagraine prevention study (CHAMP); children and adolescents with MPS I; children with Tourette syndrome; postural orthostatic tachycardia syndrome (POTS); 22q11.2 deletion syndrome; hearing aids in children, migraine in children; positive airway pressure (PAP) in children; vilazodone in adolescents; levomilnacipran in adolescents; preterm infants; attention deficit hyperactivity disorder (ADHD); BH4/tetrahydrobiopterin; Charcot-Marie-Tooth; children with asthma; congenital hypothyroidism; Duchenne muscular dystrohies (DMD); Fabray; intellectual disabilities; myotonic type 1; neurofibromatosis (NF1); Pompe disease; and short-chain acyl-CoA dehydrogenase deficiency (SCHAD); tracheostomies; hyperphagia in Prader-Wili; XXY (Klinefelter); GERD; TBI; substance abuse; cochlear implants; congenital adrenal hyperplasia; congenital heart disease; cystic fibrosis; depression; MOMS trial for NTD; e-cigarettes; epilepsy; FASD; foster care; fragile X; headache; infantile spasms; inflammatory bowel disease; ketogenic diet; LCHAD/TFP deficiency; leukodystrophy; MCADD; malonic aciduria; maple syrup urine disease; maternal depression; methylmalonic acidemia; open/aftercare treatment for participants diagnosed with obsessive-complusive disorder; osteogenesis imperfecta; osteoporosis; otitis media with effusion; PaP; PKU; patient-specific, effective, and rational functional connnectivity trgeting for DBS in OCD; constipation; obesity; Prader-Willi syndrome; predicting treatment response in patients wtih OCD; propionic acidemia; reclaim deep brain stimulation (DBS) therapy for obsessive-compulsive disorder; Rett syndrome; seizures; SCID: sickle cell disease; smoking cessation; somatic symptom and related disorders; spina bifida; spinal cord injuries; spinal muscular atrophy; autism; complementary and alternative medicine; glactosemia; integrative health; pyruvate decarboxylase deficiency; syncope; thin film spectacle coatings to reduce light sensitivity and headaches in child and adolescent patients with migraine; transgender youth; treatment of CMV-related hearing loss; tuberous sclerosis; turner syndrome; type 1 diabetes; tyrosinemia type 1; understanding how ketamine brings about rapid improvement in OCD; very long chain acyl-CoA dehydrogenase deficiency (VLCADD); and others. Type in the term on the home page under "Find a study."

Conducts research on cerebral palsy.

Conducts research on repair of myelomeningocele.

Conducts research on cerebral palsy.

Conducts research on cerebral palsy.

Conducts research on spinal muscular atrophy (SMA).

Conducts research on smoking, alcohol, and other substances.

Conducts research on Down syndrome.

Provides a review of 22 trials supports early developmental intervention programs post discharge from hospital for preterm infants to improve cognitive development in the short to medium term (up to pre-school age).

Provides information about studies for Klinefelter syndrome. See also PMID 20014372.

Funds research, runs scientific meetings, advises pharmaceutical companies, and provides education. Families can reach out to FRAXA for resources, guidance, referrals, and an international community of support.