Clinical trial NCT06958380: Corrective Exercise and Rehabilitation in Fanconi Anemia: A Case Study
Official title: The Impact of Corrective Exercise and Rehabilitation on a Patient With Fanconi Anemia: A Clinical Case Study
Study type: INTERVENTIONAL
Overall status: NOT_YET_RECRUITING
Phase: NA
Conditions: Fanconi Anemia
Keywords: Corrective Exercise
Quality of Life (QoL)
Physical Therapy Intervention
Fatigue
Postural Correction
Lead sponsor: Pardis Specialized Wellness Institute
Sponsor class: OTHER
First posted: 2025-05-06
Enrollment: 1
Sex: MALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: This is a longitudinal single-subject case study in which one adult patient diagnosed with Fanconi anemia will undergo a structured, in-person supervised corrective exercise and rehabilitation program. The subject will serve as their own control, with baseline measurements compared to post-intervention outcomes.
Primary purpose: SUPPORTIVE_CARE

Brief summary: Introduction: Fanconi anemia (FA) is a rare autosomal recessive DNA repair disorder characterized by congenital malformations, progressive bone marrow failure, and reduced quality of life. Although physical and occupational therapy are routinely recommended to address skeletal anomalies in FA, no studies have evaluated the impact of a structured corrective exercise and rehabilitation program on patient outcomes.

Method: In this single case clinical report, an adult FA patient will complete a 12 week supervised corrective exercise and rehabilitation program (36 sessions; 3 × 40-45 min/week) delivered via in-person supervised sessions. Primary outcome is change in patient reported quality of life (SF 36) from baseline to week 12; secondary outcomes include muscle strength, fatigue severity, postural parameters, and hematological indices.

Detailed description: Fanconi anemia (FA), first described in 1927 by Dr. Guido Fanconi, is a rare, inherited, autosomal recessive disorder affecting proteins involved in DNA repair and cell cycle regulation. This syndrome is characterized by congenital malformations (involving the limbs, skeletal system, kidneys and urinary structures, sensory organs (eyes and ears) and central nervous system), progressive bone marrow failure (aplastic anemia), increased cancer incidence (particularly head/neck epithelial cancers and acute myeloid leukemia (AML)) and a range of physical anomalies (including microcephaly and short stature).

Higher prevalence rates of FA have been observed in populations with a high incidence of consanguineous marriages, including South African Blacks, Turks, Saudi Arabians, Ashkenazi Jews and Iranians. Globally, the disorder affects approximately 1 in every 160,000 to 360,000 individuals, while the estimated carrier frequency is around 0.3%.

FA results from mutations in at least 22 genes involved in genomic stability and DNA repair. The majority of FA-related changes-accounting for more than 80%-are found in the FANCA, FANCG, and FANCC genes, whereas alterations in the remaining genes are comparatively rare.

The diagnosis of FA, though challenging due to variable expressiveness, relies on clinical suspicion confirmed through genetic analysis. FA should be suspected in cases of de novo bone marrow failure, especially in younger patients, or in the presence of spontaneous chromosomal breaks and certain cytogenetic abnormalities. Early diagnosis, while not currently improving cure rates, enables healthcare professionals to implement systematic follow-up protocols and timely interventions.

Therapeutic management of FA relies on vigilant, risk adapted monitoring of hematologic status-complete blood counts and bone marrow assessments are scheduled from every six months to six weeks based on cytopenia severity-to detect dysplasia or clonal abnormalities. Supportive care with red cell and platelet transfusions, infection prophylaxis, and occasional androgen therapy helps maintain blood counts while preparing for hematopoietic stem cell transplantation (HSCT). Transplantation, preferably before transfusion dependence or emergence of poor risk cytogenetic changes, offers the only curative approach to marrow failure. Simultaneously, long term surveillance addresses FA's systemic complications through regular cancer screenings and organ specific evaluations.

Despite the established role of physical and occupational therapy in managing skeletal abnormalities in FA, there is a notable scarcity of research specifically examining the effectiveness of structured exercise rehabilitation programs for this population. In a similar study, Ye et al. (2024) found that a structured exercise rehabilitation program improved quality of life, reduced fatigue, and enhanced physical performance in aplastic anemia patients undergoing HSCT. These promising outcomes support the potential benefit of a similar approach in Fanconi anemia patients. Based on the identified research gaps, the investigators hypothesize that a structured program of corrective exercise, physical therapy interventions, and rehabilitation will improve quality of life, physical function, and potentially influence hematological parameters in patients with Fanconi anemia.

The primary objective of this case study is to evaluate the effectiveness of these interventions on patient-reported quality of life. Secondary objectives include assessing improvements in muscle strength, fatigue levels, functional independence in activities of daily living, and monitoring potential changes in hematological indicators. Our intervention will encompass a structured exercise rehabilitation program beginning at an appropriate phase of treatment and continuing through a defined follow-up period. This case study aims to provide preliminary evidence to guide the development of comprehensive rehabilitation protocols specifically designed for the FA population, addressing both the skeletal abnormalities and the systemic manifestations of the condition.

Eligibility criteria: Inclusion Criteria:

* Confirmed diagnosis of Fanconi Anemia through genetic testing
* Age 18 years or older
* Medically stable and cleared for exercise participation by their physician
* Ability to provide informed consent
* Access to a smartphone, tablet, or computer with stable internet connection
* Willingness to participate in scheduled rehabilitation sessions over 12 weeks

Exclusion Criteria:

* Presence of unstable medical conditions (e.g., uncontrolled infections, recent surgery, severe cardiopulmonary issues)
* Cognitive impairments that interfere with understanding or performing exercise instructions
* Recent hematopoietic stem cell transplantation (within past 3 months)
* Concurrent participation in another structured physical rehabilitation program

Primary outcomes:
measure: Rate of changes in hyper-kyphosis
timeFrame: Pre-intervention and Week 12
measure: Rate of changes in forward head posture
timeFrame: Pre-intervention and Week 12
Secondary outcomes:
measure: Change in Quality of Life (SF-36)
timeFrame: Pre-intervention and Week 12
measure: Change in Fatigue Severity
timeFrame: Pre-intervention and Week 12
measure: Rate of changes of daily physical activity level
timeFrame: Pre-intervention and Week 12
measure: Change in Muscle Strength
timeFrame: Pre-intervention and Week 12
measure: Rate of changes of balance and fall risk
timeFrame: Pre-intervention and Week 12
measure: Rate of changes of physical function
timeFrame: Pre-intervention and Week 12
measure: Number of participants with abnormal hematological test results
timeFrame: Baseline, Week 6, and Week 12
Other outcomes:
Locations:
city: Isfahan
country: Iran, Islamic Republic of
facility: Pardis specialized wellness institute
Study officials:
affiliation: Pardis Specialized Wellness Institute
name: Mohammad Ali Tabibi, Dr
role: STUDY_DIRECTOR
References:
citation: Akshintala S, Khalil N, Yohay K, Muzikansky A, Allen J, Yaffe A, Gross AM, Fisher MJ, Blakeley JO, Oberlander B, Pudel M, Engelson C, Obletz J, Mitchell C, Widemann BC, Stevenson DA, Plotkin SR; REiNS International Collaboration. Reliability of Handheld Dynamometry to Measure Focal Muscle Weakness in Neurofibromatosis Types 1 and 2. Neurology. 2021 Aug 17;97(7 Suppl 1):S99-S110. doi: 10.1212/WNL.0000000000012439. Epub 2021 Jul 6.
citation: Altintas B, Giri N, McReynolds LJ, Best A, Alter BP. Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort. Haematologica. 2023 Jan 1;108(1):69-82. doi: 10.3324/haematol.2021.279981.
citation: Eghbali A, Safdari SM, Yousefi Roozbahani M, Tavajohi K, Hosseini S. Fanconi Anemia: Challenges in Diagnosis and Management-A Case Series Report. Clin Case Rep. 2024 Nov 17;12(11):e9583. doi: 10.1002/ccr3.9583. eCollection 2024 Nov.
citation: Dufour C, Pierri F. Modern management of Fanconi anemia. Hematology Am Soc Hematol Educ Program. 2022 Dec 9;2022(1):649-657. doi: 10.1182/hematology.2022000393.
citation: Hardy SE, Gill TM. Factors associated with recovery of independence among newly disabled older persons. Arch Intern Med. 2005 Jan 10;165(1):106-12. doi: 10.1001/archinte.165.1.106.
citation: Impellizzeri FM, Agosti F, De Col A, Sartorio A. Psychometric properties of the Fatigue Severity Scale in obese patients. Health Qual Life Outcomes. 2013 Mar 6;11:32. doi: 10.1186/1477-7525-11-32.
citation: Moreno OM, Paredes AC, Suarez-Obando F, Rojas A. An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review). Biomed Rep. 2021 Sep;15(3):74. doi: 10.3892/br.2021.1450. Epub 2021 Jul 15.
citation: Singla D, Veqar Z. Association Between Forward Head, Rounded Shoulders, and Increased Thoracic Kyphosis: A Review of the Literature. J Chiropr Med. 2017 Sep;16(3):220-229. doi: 10.1016/j.jcm.2017.03.004. Epub 2017 Sep 28.
citation: Rayi A, Hozayen S. Chromosome Instability Syndromes. 2022 Sep 19. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK537198/
citation: Wardyn GG, Rennard SI, Brusnahan SK, McGuire TR, Carlson ML, Smith LM, McGranaghan S, Sharp JG. Effects of exercise on hematological parameters, circulating side population cells, and cytokines. Exp Hematol. 2008 Feb;36(2):216-23. doi: 10.1016/j.exphem.2007.10.003.
citation: Ye M, Liu T, Mao X, Tan X, Wang J, Xu M. Effectiveness of exercise rehabilitation on aplastic anemia patients receiving hematopoietic stem cell transplantation: study protocol for a randomized controlled trial. Trials. 2024 Jun 5;25(1):361. doi: 10.1186/s13063-024-08197-4.