Clinical Trials Logo
  1. Home
  2. Rett Syndrome
  3. NCT00004807
  4. Details
NCT00004807 Clinical Trial

Study of the Pathogenesis of Rett Syndrome

Rett Syndrome Clinical Trial

Clinical Trial Details — Status: Completed

Administrative data
NCT number NCT00004807
Other study ID # 199/12009
Secondary ID JHUSM-KKI-870212
Status Completed
Phase N/A
First received February 24, 2000
Last updated June 23, 2005
Start date January 1995

Study information
Verified date December 1998
Source Office of Rare Diseases (ORD)
Contact n/a
Is FDA regulated No
Health authority United States: Federal Government
Study type Interventional

Clinical Trial Summary

OBJECTIVES: I. Extend current knowledge of the phenotype and natural history of Rett syndrome (RS).

II. Continue the search for a cytogenetic and/or DNA marker. III. Study the effects of cholinergic drugs based on preliminary evidence for reduced levels of brain acetylcholine, while continuing supportive care to modify seizures, respiratory abnormalities, and motor disturbances, and improve nutrition, behavior, and learning.

IV. Identify targets for future therapeutic interventions, e.g., growth factors, to influence neurologic recovery.

Description:

PROTOCOL OUTLINE: Patients receive a comprehensive clinical evaluation including an ophthalmologic exam; speech, communication, and developmental assessment; nutritional evaluation; neurologic exam; respiratory monitoring; and cytogenetic studies.

Selected patients with malnutrition are given night feedings of Pediasure with Fiber by nasogastric tube. Specific recommendations for feeding techniques and diet are made.

Selected patients with seizures or severe hyperventilation and progressive rigidity are nonrandomly assigned to dextromethorphan or topiramate therapy.

Oral dextromethorphan is maintained 6 months to 1 year; duration of therapy depends on response. Oral topiramate is given for 6 months to 1 year, and Aricept for 6 months to 1 year.

Concurrent anticonvulsants may require dose adjustments while on above protocols. Supportive care for constipation, scoliosis, and weight loss is allowed.

Recruitment information / eligibility
Status Completed
Enrollment 120
Est. completion date
Est. primary completion date
Accepts healthy volunteers No
Gender Both
Age group N/A to 45 Years
Eligibility PROTOCOL ENTRY CRITERIA:

Rett syndrome

Diagnosis confirmed on study

Study Design

Primary Purpose: Treatment

Related Conditions & MeSH terms

Intervention

Drug:
• dextromethorphan

• topiramate

• Donepezil

Locations
Country Name City State
n/a

Sponsors (2)
Lead Sponsor Collaborator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Johns Hopkins University

References & Publications (9)

Casanova MF, Naidu S, Goldberg TE, Moser HW, Khoromi S, Kumar A, Kleinman JE, Weinberger DR. Quantitative magnetic resonance imaging in Rett syndrome. J Neuropsychiatry Clin Neurosci. 1991 Winter;3(1):66-72. — View Citation

Cooke DW, Naidu S, Plotnick L, Berkovitz GD. Abnormalities of thyroid function and glucose control in subjects with Rett syndrome. Horm Res. 1995;43(6):273-8. — View Citation

Marcus CL, Carroll JL, McColley SA, Loughlin GM, Curtis S, Pyzik P, Naidu S. Polysomnographic characteristics of patients with Rett syndrome. J Pediatr. 1994 Aug;125(2):218-24. — View Citation

Naidu S, Hyman S, Harris EL, Narayanan V, Johns D, Castora F. Rett syndrome studies of natural history and search for a genetic marker. Neuropediatrics. 1995 Apr;26(2):63-6. — View Citation

Naidu S, Hyman S, Piazza K, Savedra J, Perman J, Wenk G, Kitt C, Troncoso J, Price D, Cassanova M, et al. The Rett syndrome: progress report on studies at the Kennedy Institute. Brain Dev. 1990;12(1):5-7. — View Citation

Naidu S, Wong DF, Kitt C, Wenk G, Moser HW. Positron emission tomography in the Rett syndrome: clinical, biochemical and pathological correlates. Brain Dev. 1992 May;14 Suppl:S75-9. — View Citation

Reiss AL, Faruque F, Naidu S, Abrams M, Beaty T, Bryan RN, Moser H. Neuroanatomy of Rett syndrome: a volumetric imaging study. Ann Neurol. 1993 Aug;34(2):227-34. — View Citation

Wenk GL, Naidu S, Casanova MF, Kitt CA, Moser H. Altered neurochemical markers in Rett's syndrome. Neurology. 1991 Nov;41(11):1753-6. — View Citation

Wenk GL, O'Leary M, Nemeroff CB, Bissette G, Moser H, Naidu S. Neurochemical alterations in Rett syndrome. Brain Res Dev Brain Res. 1993 Jul 16;74(1):67-72. — View Citation

See also
  Status Clinical Trial Phase
Completed NCT04988867 - An Open-Label Study of Trofinetide for the Treatment of Girls Two to Five Years of Age Who Have Rett Syndrome Phase 2/Phase 3
Recruiting NCT00069550 - Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Phase 3
Enrolling by invitation NCT06139172 - Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities N/A
Not yet recruiting NCT04041713 - A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome Phase 2
Not yet recruiting NCT04014985 - Patients With RETT Syndrome N/A
Completed NCT02705677 - Biobanking of Rett Syndrome and Related Disorders
Terminated NCT02790034 - Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms Phase 2/Phase 3
Enrolling by invitation NCT03655223 - Early Check: Expanded Screening in Newborns
Recruiting NCT05932589 - Neurophysiologic Biomarkers in Rett Syndrome
Recruiting NCT04463316 - GROWing Up With Rare GENEtic Syndromes
Completed NCT04776746 - Open-Label Extension Study of Trofinetide for Rett Syndrome Phase 3
Completed NCT04181723 - Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome (LAVENDER™) Phase 3
Enrolling by invitation NCT03836300 - Parent and Infant Inter(X)Action Intervention (PIXI) N/A
Completed NCT04514549 - ASSESSING EMERALD AND MC10 BIOSTAMP nPOINT BIOSENSORS FOR RETT SYNDROME
Terminated NCT02562820 - An Exploratory Trial of Ketamine for the Treatment of Rett Syndrome Phase 1
Completed NCT02738281 - Natural History of Rett Syndrome & Related Disorders
Completed NCT05687214 - Osteopathic Manipulative Treatment for Constipation in People With Rett Syndrome N/A
Recruiting NCT06199700 - Esketamine for the Treatment of Rett Syndrome Early Phase 1
Completed NCT03941444 - ANAVEX2-73 Study in Patients With Rett Syndrome Phase 3
Recruiting NCT06346106 - The Diagnostic Experience of Male Rett Syndrome